In the last few years, the use of oral sirolimus has shown promising results in the treatment of some complex vascular anomalies, and recently, it has been used in patients with Sturge-Weber syndrome (SWS). We present the case of an 11-year-old girl with the diagnosis of SWS and hemifacial overgrowth treated with oral sirolimus. Throughout the eight months of follow-up, improvement of the port-wine birthmark, intraocular pressure, and neurocognitive development was noted. The mTOR inhibitors may be useful in the treatment of some patients with SWS.
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Background: Rhabdomyoma is the most common cardiac tumor in fetal life. It has frequent association with tuberous sclerosis complex and may lead to heart failure, a potentially fatal condition. The use of transplacental sirolimus, a mTOR inhibitor, has emerged as a novel treatment in symptomatic fetal rhabdomyomas, there are, though, only few cases described.
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